Canonical Allele Identifier: CA7450153

Gene: FAN1

Linked Data

• ClinVar Variation Id: 2895269
• ClinVar RCV Id: RCV003728347
• dbSNP Id: rs775904660
• ExAC: 15:31197769 TGAA / T
• gnomAD v2: 15-31197769-TGAA-T
• gnomAD v3: 15-30905566-TGAA-T
• gnomAD v4: 15-30905566-TGAA-T
• MyVariant Identifiers: chr15:g.31197770_31197772del (hg19) ; chr15:g.30905567_30905569del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30905571_30905573del , CM000677.2:g.30905571_30905573del	GRCh38
NC_000015.9:g.31197774_31197776del , CM000677.1:g.31197774_31197776del	GRCh37
NC_000015.8:g.28985066_28985068del	NCBI36
NG_032946.1:g.6720_6722del
NG_032946.2:g.6720_6722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.908_910del MANE Select	ENSP00000354497.4:p.Glu303del
ENST00000561607.6:c.908_910del	ENSP00000454223.1:p.Glu303del
ENST00000562892.2:c.-57+981_-57+983del	ENSP00000457680.2:n.-57+981_-57+983del
ENST00000568145.6:n.110+981_110+983del
ENST00000602886.2:n.1085_1087del
ENST00000654013.1:n.1184_1186del
ENST00000654056.1:c.-57+981_-57+983del	ENSP00000499726.1:n.-57+981_-57+983del
ENST00000655421.1:n.1179_1181del
ENST00000656109.1:n.179+981_179+983del
ENST00000656307.1:n.1160_1162del
ENST00000656435.1:c.908_910del	ENSP00000499534.1:p.Glu303del
ENST00000657391.1:c.908_910del	ENSP00000499703.1:p.Glu303del
ENST00000658773.1:c.908_910del	ENSP00000499742.1:p.Glu303del
ENST00000661974.1:c.402_404del
ENST00000662114.1:n.1164_1166del
ENST00000664070.1:c.908_910del	ENSP00000499478.1:p.Glu303del
ENST00000664837.1:c.-57+981_-57+983del	ENSP00000499780.1:n.-57+981_-57+983del
ENST00000665705.1:n.1147_1149del
ENST00000665894.1:n.1168_1170del
ENST00000666143.1:c.-229-154_-229-152del	ENSP00000499576.1:n.-229-154_-229-152del
ENST00000666852.1:n.1160_1162del
ENST00000667837.1:n.965+218_965+220del
ENST00000670074.1:c.690+218_690+220del	ENSP00000499252.1:n.690+218_690+220del
ENST00000670849.1:c.908_910del	ENSP00000499638.1:p.Glu303del
ENST00000362065.8:c.908_910del	ENSP00000354497.4:p.Glu303del
ENST00000561594.5:c.908_910del	ENSP00000455983.1:p.Glu303del
ENST00000561607.5:c.908_910del	ENSP00000454223.1:p.Glu303del
ENST00000562892.1:c.52+981_52+983del	ENSP00000457680.1:n.52+981_52+983del
ENST00000565280.5:c.908_910del	ENSP00000455573.1:p.Glu303del
ENST00000565466.5:c.908_910del	ENSP00000454544.1:p.Glu303del
NM_001146094.1:c.908_910del	NP_001139566.1:p.Glu303del
NM_001146095.1:c.908_910del	NP_001139567.1:p.Glu303del
NM_001146096.1:c.908_910del	NP_001139568.1:p.Glu303del
NM_014967.4:c.908_910del	NP_055782.3:p.Glu303del
XM_005254232.3:c.908_910del	XP_005254289.1:p.Glu303del
XM_005254234.3:c.908_910del	XP_005254291.1:p.Glu303del
XM_005254235.3:c.908_910del	XP_005254292.1:p.Glu303del
XM_005254236.2:c.908_910del	XP_005254293.1:p.Glu303del
XM_011521370.1:c.52+981_52+983del	XP_011519672.1:n.52+981_52+983del
XM_011521371.1:c.-412_-410del	XP_011519673.1:n.-412_-410del
XM_011521372.1:c.908_910del	XP_011519674.1:p.Glu303del
XM_005254232.4:c.908_910del	XP_005254289.1:p.Glu303del
XM_005254234.5:c.908_910del	XP_005254291.1:p.Glu303del
XM_011521370.2:c.52+981_52+983del	XP_011519672.1:n.52+981_52+983del
XM_011521372.2:c.908_910del	XP_011519674.1:p.Glu303del
XM_017022012.2:c.-562_-560del	XP_016877501.1:n.-562_-560del
XM_017022013.1:c.-562_-560del	XP_016877502.1:n.-562_-560del
XM_024449874.1:c.-412_-410del	XP_024305642.1:n.-412_-410del
XR_001751149.1:n.1207_1209del
XR_001751151.1:n.1203_1205del
NM_014967.5:c.908_910del MANE Select	NP_055782.3:p.Glu303del
NM_001146094.2:c.908_910del	NP_001139566.1:p.Glu303del
NM_001146096.2:c.908_910del	NP_001139568.1:p.Glu303del